Canonical Allele Identifier: CA560557932

Gene: DHFR

Linked Data

• dbSNP Id: rs58800428
• gnomAD v2: 5-79939286-C-CAA
• gnomAD v3: 5-80643467-C-CAA
• gnomAD v4: 5-80643467-C-CAA
• MyVariant Identifiers: chr5:g.79939289_79939290insAA (hg19) ; chr5:g.79939286_79939287insAA (hg19) ; chr5:g.80643470_80643471insAA (hg38) ; chr5:g.80643467_80643468insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80643485_80643486dup , CM000667.2:g.80643485_80643486dup	GRCh38
NC_000005.9:g.79939304_79939305dup , CM000667.1:g.79939304_79939305dup	GRCh37
NC_000005.8:g.79975060_79975061dup	NCBI36
NG_023304.1:g.16513_16514dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000439211.7:c.243-5460_243-5459dup MANE Select	ENSP00000396308.2:n.243-5460_243-5459dup
ENST00000439211.6:c.243-5460_243-5459dup	ENSP00000396308.2:n.243-5460_243-5459dup
ENST00000504396.1:c.87-5460_87-5459dup	ENSP00000421334.1:n.87-5460_87-5459dup
ENST00000505337.5:c.243-5460_243-5459dup	ENSP00000426474.1:n.243-5460_243-5459dup
ENST00000508282.1:n.201-5460_201-5459dup
ENST00000511032.5:c.243-5460_243-5459dup	ENSP00000422732.1:n.243-5460_243-5459dup
ENST00000513048.5:n.250+5920_250+5921dup
NM_000791.3:c.243-5460_243-5459dup	NP_000782.1:n.243-5460_243-5459dup
NM_001290354.1:c.87-5460_87-5459dup	NP_001277283.1:n.87-5460_87-5459dup
NM_001290357.1:c.243-5460_243-5459dup	NP_001277286.1:n.243-5460_243-5459dup
NR_110936.1:n.684+5920_684+5921dup
NM_000791.4:c.243-5460_243-5459dup MANE Select	NP_000782.1:n.243-5460_243-5459dup
NM_001290354.2:c.87-5460_87-5459dup	NP_001277283.1:n.87-5460_87-5459dup
NM_001290357.2:c.243-5460_243-5459dup	NP_001277286.1:n.243-5460_243-5459dup
NR_110936.2:n.686+5920_686+5921dup